A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10564681



Internal ID4509642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84222212..84239665hg38UCSC Ensembl
chr2:84449336..84466789hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3817454
hg1917454
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591508
Supporting Variants
SamplesHG04006
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10564681
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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